Thin basement membrane disease pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
'''Physiology''' | |||
Glomerular Basement membrane is consists of laminin, Type 4 collagen, heparan sulfate proteoglycan and nidogen. Type 4 collagen is generally composed of Gly-X-Y amino acids rich in six alpha chains (alpha 1-6) that gives type 4 collagen a trimeric shape. The nascent GBM is made up of alpha 1 and 2 initially, then alpha 3-4 trimers are secreted after glomerular capillaries formation which becomes the major component of type 4 collagen and giving the GBM its stability.<ref name="pmid22410250">{{cite journal |vauthors=Miner JH |title=The glomerular basement membrane |journal=Exp. Cell Res. |volume=318 |issue=9 |pages=973–8 |date=May 2012 |pmid=22410250 |pmc=3334451 |doi=10.1016/j.yexcr.2012.02.031 |url=}}</ref> | |||
'''Pathology''' | |||
Heterozygous mutation in COL4A3 and COL4A4 is responsible for causing autosomal dominant pattern of 40-50% of Thin basement membrane disease. <ref name="pmid22410250">{{cite journal |vauthors=Miner JH |title=The glomerular basement membrane |journal=Exp. Cell Res. |volume=318 |issue=9 |pages=973–8 |date=May 2012 |pmid=22410250 |pmc=3334451 |doi=10.1016/j.yexcr.2012.02.031 |url=}}</ref> And heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement mamebrane disease in female. | |||
'''Genetics''' | |||
'''Associated condition''' | |||
'''Gross pathology''' | |||
'''Microscopic pathology''' | |||
==References== | ==References== | ||
Revision as of 20:48, 3 October 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Physiology Glomerular Basement membrane is consists of laminin, Type 4 collagen, heparan sulfate proteoglycan and nidogen. Type 4 collagen is generally composed of Gly-X-Y amino acids rich in six alpha chains (alpha 1-6) that gives type 4 collagen a trimeric shape. The nascent GBM is made up of alpha 1 and 2 initially, then alpha 3-4 trimers are secreted after glomerular capillaries formation which becomes the major component of type 4 collagen and giving the GBM its stability.[1]
Pathology Heterozygous mutation in COL4A3 and COL4A4 is responsible for causing autosomal dominant pattern of 40-50% of Thin basement membrane disease. [1] And heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement mamebrane disease in female.
Genetics Associated condition Gross pathology Microscopic pathology
References
- ↑ 1.0 1.1 Miner JH (May 2012). "The glomerular basement membrane". Exp. Cell Res. 318 (9): 973–8. doi:10.1016/j.yexcr.2012.02.031. PMC 3334451. PMID 22410250.